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General Information
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| Term |
developmental and epileptic encephalopathy 75 |
ID (Ontology) |
DOID:0112211 (Human Disease) |
| Definition |
A developmental and epileptic encephalopathy characterized by onset in the first months of life of severe refractory seizures, multifocal spikes and hypsarrhythmia on EEG, severely impaired intellectual development with inability to walk, absent speech, and hypotonia with axial hyperreflexia that has_material_basis_in homozygous or compound heterozygous mutation in the PARS2 gene on chromosome 1p32.3. |
| Also Known As |
"DEE75" ; "early infantile epileptic encephalopathy 75" |
| Comment |
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Links to External Ontologies
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DO.org
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Annotations
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Records annotated with this term OR any of its CHILD TERMS
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Records annotated with this exact term (annotations to child terms are NOT included)
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No relevant records available
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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| Full annotation statements | Relevant FlyBase reports |
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| Genes |
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developmental and epileptic encephalopathy 75 | 1 | for disease ribbon | developmental and epileptic encephalopathy 75 | 1 | model of | developmental and epileptic encephalopathy 75 | 1 |
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Relationships